Mutagenetix > Incidental Mutation

Incidental Mutation 'R3618:Trpv3'

268525

Institutional Source

Beutler Lab

Gene Symbol

Trpv3

Ensembl Gene

ENSMUSG00000043029

Gene Name

transient receptor potential cation channel, subfamily V, member 3

Synonyms

VRL3, 1110036I10Rik, Nh

MMRRC Submission

040675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R3618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73158315-73191194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73186281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 691 (I691F)

Ref Sequence

ENSEMBL: ENSMUSP00000053755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049676]

AlphaFold

Q8K424

PDB Structure

Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049676
AA Change: I691F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: I691F

Domain	Start	End	E-Value	Type
low complexity region	81	92	N/A	INTRINSIC
low complexity region	109	122	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
ANK	167	201	1.21e2	SMART
ANK	214	243	3.54e-1	SMART
ANK	261	291	1.36e-2	SMART
ANK	340	370	6.71e-2	SMART
low complexity region	417	431	N/A	INTRINSIC
Pfam:Ion_trans	437	689	3.9e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,168 (GRCm39)	E1119G	probably damaging	Het
Ahnak2	A	G	12: 112,749,842 (GRCm39)	I132T	probably damaging	Het
Arhgap29	G	A	3: 121,782,176 (GRCm39)	D63N	possibly damaging	Het
Bsn	T	A	9: 107,994,760 (GRCm39)		probably null	Het
Cfap161	A	C	7: 83,429,390 (GRCm39)	Y209*	probably null	Het
Drp2	A	C	X: 133,340,717 (GRCm39)	D458A	probably benign	Het
Efcab6	T	C	15: 83,834,270 (GRCm39)	H446R	probably benign	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
F13a1	G	A	13: 37,127,967 (GRCm39)	T337I	probably damaging	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Hcfc1	A	T	X: 72,993,694 (GRCm39)	V1157D	probably benign	Het
Inava	A	C	1: 136,142,110 (GRCm39)	V663G	probably benign	Het
Ino80	T	C	2: 119,277,353 (GRCm39)	D374G	probably null	Het
Kif1a	T	C	1: 93,004,765 (GRCm39)	E143G	probably null	Het
Larp1	A	T	11: 57,948,172 (GRCm39)	E990D	probably benign	Het
Larp7	C	A	3: 127,330,614 (GRCm39)	E568*	probably null	Het
Ltn1	A	T	16: 87,217,787 (GRCm39)	S298R	probably damaging	Het
Mcm10	A	G	2: 5,001,913 (GRCm39)		probably null	Het
Mef2a	G	A	7: 66,918,075 (GRCm39)	S111L	probably benign	Het
Mroh1	A	G	15: 76,336,546 (GRCm39)	T1590A	possibly damaging	Het
Ncoa6	A	T	2: 155,249,709 (GRCm39)	H1198Q	possibly damaging	Het
Ogg1	A	G	6: 113,305,334 (GRCm39)	E49G	probably damaging	Het
Palm3	T	A	8: 84,755,973 (GRCm39)	V495E	probably benign	Het
Pam	A	G	1: 97,762,157 (GRCm39)	F809L	probably damaging	Het
Parp3	T	C	9: 106,352,262 (GRCm39)	E88G	possibly damaging	Het
Ptprs	A	G	17: 56,735,965 (GRCm39)	I156T	probably benign	Het
Pus7l	T	A	15: 94,425,788 (GRCm39)	I538F	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Ryr2	C	T	13: 11,787,466 (GRCm39)		probably null	Het
Slc8a2	A	G	7: 15,886,824 (GRCm39)	N656D	possibly damaging	Het
Stard9	C	T	2: 120,529,500 (GRCm39)	T1919I	possibly damaging	Het
Tbcel	T	C	9: 42,372,591 (GRCm39)		probably benign	Het
Uba2	A	G	7: 33,853,907 (GRCm39)		probably null	Het
Usp53	A	C	3: 122,728,061 (GRCm39)	S840R	probably benign	Het
Vmn2r100	A	T	17: 19,743,692 (GRCm39)	I452F	probably benign	Het
Zbtb48	A	T	4: 152,110,484 (GRCm39)		probably null	Het
Zfp385b	G	A	2: 77,246,233 (GRCm39)	P177S	probably benign	Het
Zfp42	T	C	8: 43,748,938 (GRCm39)	R188G	possibly damaging	Het

Other mutations in Trpv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Trpv3	APN	11	73,184,826 (GRCm39)	critical splice donor site	probably null
IGL01161:Trpv3	APN	11	73,187,544 (GRCm39)	splice site	probably benign
IGL02130:Trpv3	APN	11	73,170,596 (GRCm39)	missense	probably benign	0.00
IGL02957:Trpv3	APN	11	73,176,698 (GRCm39)	missense	probably damaging	1.00
IGL03334:Trpv3	APN	11	73,172,491 (GRCm39)	splice site	probably benign
R0103:Trpv3	UTSW	11	73,184,805 (GRCm39)	missense	probably damaging	1.00
R0103:Trpv3	UTSW	11	73,184,805 (GRCm39)	missense	probably damaging	1.00
R0546:Trpv3	UTSW	11	73,188,013 (GRCm39)	missense	probably damaging	1.00
R0685:Trpv3	UTSW	11	73,187,640 (GRCm39)	splice site	probably benign
R0969:Trpv3	UTSW	11	73,169,764 (GRCm39)	nonsense	probably null
R1748:Trpv3	UTSW	11	73,186,209 (GRCm39)	missense	possibly damaging	0.84
R1974:Trpv3	UTSW	11	73,174,514 (GRCm39)	missense	probably damaging	0.99
R2015:Trpv3	UTSW	11	73,170,653 (GRCm39)	missense	probably damaging	0.97
R3426:Trpv3	UTSW	11	73,176,767 (GRCm39)	missense	probably damaging	1.00
R3427:Trpv3	UTSW	11	73,176,767 (GRCm39)	missense	probably damaging	1.00
R3428:Trpv3	UTSW	11	73,176,767 (GRCm39)	missense	probably damaging	1.00
R3712:Trpv3	UTSW	11	73,169,780 (GRCm39)	missense	probably benign
R3916:Trpv3	UTSW	11	73,174,560 (GRCm39)	missense	possibly damaging	0.87
R3917:Trpv3	UTSW	11	73,174,560 (GRCm39)	missense	possibly damaging	0.87
R3961:Trpv3	UTSW	11	73,178,246 (GRCm39)	nonsense	probably null
R4242:Trpv3	UTSW	11	73,168,649 (GRCm39)	missense	probably benign	0.43
R4277:Trpv3	UTSW	11	73,187,264 (GRCm39)	missense	probably damaging	0.97
R4506:Trpv3	UTSW	11	73,186,150 (GRCm39)	missense	probably benign	0.40
R4629:Trpv3	UTSW	11	73,172,615 (GRCm39)	missense	probably damaging	0.99
R4656:Trpv3	UTSW	11	73,186,240 (GRCm39)	missense	probably damaging	1.00
R5059:Trpv3	UTSW	11	73,186,149 (GRCm39)	missense	probably benign	0.00
R5121:Trpv3	UTSW	11	73,168,660 (GRCm39)	critical splice donor site	probably null
R6113:Trpv3	UTSW	11	73,176,844 (GRCm39)	missense	probably benign	0.10
R6130:Trpv3	UTSW	11	73,187,309 (GRCm39)	missense	possibly damaging	0.49
R6342:Trpv3	UTSW	11	73,174,689 (GRCm39)	missense	probably damaging	1.00
R6850:Trpv3	UTSW	11	73,182,519 (GRCm39)	missense	probably damaging	1.00
R7180:Trpv3	UTSW	11	73,168,818 (GRCm39)	missense	probably benign
R7434:Trpv3	UTSW	11	73,179,087 (GRCm39)	missense	probably damaging	0.96
R7440:Trpv3	UTSW	11	73,168,800 (GRCm39)	missense	probably benign	0.37
R7741:Trpv3	UTSW	11	73,179,088 (GRCm39)	missense	probably damaging	0.99
R7750:Trpv3	UTSW	11	73,176,847 (GRCm39)	missense	probably damaging	0.99
R7785:Trpv3	UTSW	11	73,168,558 (GRCm39)	missense	probably benign	0.43
R8309:Trpv3	UTSW	11	73,170,747 (GRCm39)	missense	probably damaging	1.00
R8354:Trpv3	UTSW	11	73,182,448 (GRCm39)	missense	probably damaging	1.00
R8383:Trpv3	UTSW	11	73,180,127 (GRCm39)	missense	probably benign	0.30
R8443:Trpv3	UTSW	11	73,186,209 (GRCm39)	missense	possibly damaging	0.84
R8454:Trpv3	UTSW	11	73,182,448 (GRCm39)	missense	probably damaging	1.00
R8492:Trpv3	UTSW	11	73,179,035 (GRCm39)	nonsense	probably null
R8556:Trpv3	UTSW	11	73,178,291 (GRCm39)	missense	probably benign
R8701:Trpv3	UTSW	11	73,169,762 (GRCm39)	missense	possibly damaging	0.84
R9046:Trpv3	UTSW	11	73,176,698 (GRCm39)	missense	probably damaging	1.00
R9431:Trpv3	UTSW	11	73,178,225 (GRCm39)	missense	probably benign
R9492:Trpv3	UTSW	11	73,187,267 (GRCm39)	missense	probably damaging	0.99
R9748:Trpv3	UTSW	11	73,174,499 (GRCm39)	missense	possibly damaging	0.84
Z1186:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1186:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1186:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign
Z1187:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1187:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1187:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign
Z1188:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1188:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1188:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign
Z1189:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1189:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign
Z1189:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1190:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1190:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1190:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign
Z1191:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1191:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign
Z1191:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1192:Trpv3	UTSW	11	73,174,502 (GRCm39)	missense	probably benign
Z1192:Trpv3	UTSW	11	73,169,803 (GRCm39)	missense	probably benign
Z1192:Trpv3	UTSW	11	73,160,513 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCAAGCTCACCATAGGCCTG -3'
(R):5'- ATGCCCACACATCACAGGTG -3'

Sequencing Primer
(F):5'- ACCATAGGCCTGGGCGAC -3'
(R):5'- GTGACAATGAATAGAGTGCCCCC -3'

Posted On

2015-02-19